ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139754968
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
852686
ClinVar RCV Id:
RCV001057345
RCV002451237
RCV002479349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Glu84Lys
CA405328608
NM_199037.5:c.250G>A